Varaico: Literature-Extracted Genetic Variants

Gene:TMEM185A
Variant:p.M179V

TMEM185A

22 papers

RefSeq Summary

The protein encoded by this gene is predicted to be a transmembrane protein. This gene is best known for localizing to the CpG island of the fragile site FRAXF. The 5' untranslated region of this gene...

Pfam Domains

Tmemb_185Aaa 4–194UCSCTransmembrane Fragile-X-F protein
Tmemb_185Aaa 30–173UCSCTransmembrane Fragile-X-F protein

Gene Aliases

HGNC Name

transmembrane protein 185A

HGNC Previous Symbols

CXorf13; FAM11A; FRAXF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032508.4
p.M179V
c.535A>G
Surrounding Variants
1 paper
NM_032508.4
p.L254L
c.760T>C
1 paper
NM_001174092.3
p.I226N
c.677T>A
1 paper
NM_032508.4
p.I318N
c.953T>A
1 paper
NM_032508.4
p.A319T
c.955G>A
1 paper
NM_032508.4
p.I150delFs
c.449delA
1 paper
NM_032508.4
p.S147F
c.440C>T
1 paper
NM_032508.4
p.L145L
c.433C>T
1 paper
NM_032508.4
p.D103E
c.309C>G
1 paper
NM_032508.4
p.A83V
c.248C>T
1 paper
NM_032508.4
p.T77M
c.230C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."